Case Study On Huntington's Disease

Superior Essays
Area of Study 3 – Investigating an Issue

• How is Huntington’s Disease inherited and what are the consequences and treatments for this genetic disorder?

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Huntington’s Disease is a specific neurological condition that affects the brain and nervous system. This specific disease is inherited by an autosomal dominant pattern meaning a single copy of the altered gene in each cell may cause the disorder. In most cases, the child inherits the altered gene from one parent who is affected but in rare cases, an individual who has the disease man not have with an affected parent. Huntington’s Disease is caused by mutations in the HTT gene. This particular
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Predictive genetic testing will provide the parents with results that indicate whether the foetus has a high risk of being affected by or carrying the gene for Huntington’s. Parents then must decide whether to continue with or terminate the pregnancy. This is an ethical dilemma as many individuals argue that all life should be valued and cared for, despite the medical problems that may be present. Predictive Genetic Tests are also not entirely reliable and there is a small chance that the results obtained could be incorrect. Therefore, a parent may chose to abort the foetus that may have actually been born unaffected, as a carrier of the gene or with a low chance of ever developing Huntington’s. For couples in this situation, they must decide whether to continue the pregnancy or not, based on chance factors and without knowing the severity of the disorder. Many people argue in relation to when the foetus is considered to be alive and a human. Technically the foetus can feel pain 20 weeks after fertilization and predictive genetic testing is done between 10-18 weeks (depending on which type of genetic test the mother decides) however the results will be given to the parents a few weeks after the testing date and it will be a difficult and considered decision to chose whether or not to continue with or abort the foetus. Another consideration that must be addressed is the safety of procedures for the child and mother. There is a 0.5% chance of miscarriage for amniocentesis PGT and a 1% chance of miscarriage through CVS predictive genetic testing. Further ethical implications may include the stress for parents of facing the fact that their child may be born with a severe risk of developing Huntington’s, and the stress of

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